17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation

We report a young adult woman with 17 alpha‐hydroxylase deficiency (17α‐OHD) in Shandong province of China. The patient carried compound heterozygous mutations in the CYP17A1 gene: c.985–987 delinsAA (p.Tyr329LysfsX90) and c.1486C > T (p.Arg496Cys). The patient's hypertension and hypokalemia...

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Detalles Bibliográficos
Autores principales: Han, Li Hui, Wang, Liang, Wu, Xiu Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309746/
https://www.ncbi.nlm.nih.gov/pubmed/35898732
http://dx.doi.org/10.1002/ccr3.6109
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author Han, Li Hui
Wang, Liang
Wu, Xiu Yun
author_facet Han, Li Hui
Wang, Liang
Wu, Xiu Yun
author_sort Han, Li Hui
collection PubMed
description We report a young adult woman with 17 alpha‐hydroxylase deficiency (17α‐OHD) in Shandong province of China. The patient carried compound heterozygous mutations in the CYP17A1 gene: c.985–987 delinsAA (p.Tyr329LysfsX90) and c.1486C > T (p.Arg496Cys). The patient's hypertension and hypokalemia were resolved after taking medications of glucocorticoid, aldactone, and calcium antagonists.
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spelling pubmed-93097462022-07-26 17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation Han, Li Hui Wang, Liang Wu, Xiu Yun Clin Case Rep Case Report We report a young adult woman with 17 alpha‐hydroxylase deficiency (17α‐OHD) in Shandong province of China. The patient carried compound heterozygous mutations in the CYP17A1 gene: c.985–987 delinsAA (p.Tyr329LysfsX90) and c.1486C > T (p.Arg496Cys). The patient's hypertension and hypokalemia were resolved after taking medications of glucocorticoid, aldactone, and calcium antagonists. John Wiley and Sons Inc. 2022-07-25 /pmc/articles/PMC9309746/ /pubmed/35898732 http://dx.doi.org/10.1002/ccr3.6109 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Report
Han, Li Hui
Wang, Liang
Wu, Xiu Yun
17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation
title 17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation
title_full 17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation
title_fullStr 17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation
title_full_unstemmed 17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation
title_short 17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation
title_sort 17 alpha‐hydroxylase deficiency: a case report of young chinese woman with a rare gene mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309746/
https://www.ncbi.nlm.nih.gov/pubmed/35898732
http://dx.doi.org/10.1002/ccr3.6109
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AT wuxiuyun 17alphahydroxylasedeficiencyacasereportofyoungchinesewomanwithararegenemutation

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